The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism

Four independent studies have uncovered different autism-associated variants in the gene CNTNAP2 (contactin-associated protein-like 2), making this gene the first to have multiple variants associated with the disorder. The CNTNAP2 gene encodes a cell adhesion protein that regulates signaling between neurons at a specialized region known as the synapse. As members of the neurexin family, CNTNAP2 proteins organize the synapse on the signal-receiving cell, in part by coordinating the localization of signal receptors to the area. The CNTNAP2 gene is highly expressed in the neurons that control language and language development. Disrupting the gene's activity may impair synapse formation in these neurons and potentially affect language abilities. Moreover, because CNTNAP2 may be in a fragile region of the genome that is highly susceptible to mutations, the gene may underlie a significant number of autism cases. Chakravarti and his team plan a comprehensive hunt for more variants that are associated with autism and to determine how they affect gene function.